Linked Data
ClinVar Variation Id:
4738
ClinVar RCV Id:
RCV000005004
RCV000116139
RCV000205436
RCV000212324
RCV000312325
RCV000409918
RCV000515368
RCV000504276
RCV000778127
RCV000989994
RCV001355458
RCV001535465
RCV003149564
RCV003155909
RCV003162209
dbSNP Id:
rs137852986
ExAC:
17:59793412 G / A
gnomAD v2:
17-59793412-G-A
gnomAD v3:
17-61716051-G-A
gnomAD v4:
17-61716051-G-A
COSMIC:
COSM2793776
PubMed:
PMID:16116421
PMID:16116423
PMID:16116424
PMID:16153896
PMID:17033622
PMID:19127258
PMID:19763819
PMID:20177395
PMID:20639400
PMID:21165771
PMID:21345144
PMID:21964575
PMID:22006311
PMID:24240112
PMID:24556621
PMID:25980754
PMID:26315354
PMID:26822949
PMID:26845104
PMID:26921362
PMID:26968956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716051G>A , CM000679.2:g.61716051G>A | GRCh38 |
| NC_000017.10:g.59793412G>A , CM000679.1:g.59793412G>A | GRCh37 |
| NC_000017.9:g.57148194G>A | NCBI36 |
| NG_007409.2:g.152509C>T , LRG_300:g.152509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2522C>T | ENSP00000507191.1:n.2522C>T | |
| ENST00000682073.1:n.1132C>T | ||
| ENST00000682433.1:n.1471C>T | ||
| ENST00000682453.1:c.2392C>T | ENSP00000506943.1:p.Arg798Ter | |
| ENST00000682477.1:c.*1818C>T | ENSP00000507075.1:n.*1818C>T | |
| ENST00000682589.1:n.8269C>T | ||
| ENST00000682755.1:c.2170C>T | ENSP00000507660.1:p.Arg724Ter | |
| ENST00000682989.1:c.2392C>T | ENSP00000507786.1:p.Arg798Ter | |
| ENST00000683039.1:c.2392C>T | ENSP00000508303.1:p.Arg798Ter | |
| ENST00000683235.1:c.2392C>T | ENSP00000507646.1:p.Arg798Ter | |
| ENST00000683535.1:n.522C>T | ||
| ENST00000684471.1:n.805C>T | ||
| ENST00000684584.1:c.1885C>T | ENSP00000508044.1:p.Arg629Ter | |
| ENST00000684626.1:n.721C>T | ||
| ENST00000684769.1:c.457C>T | ENSP00000507691.1:p.Arg153Ter | |
| ENST00000259008.7:c.2392C>T MANE Select | ENSP00000259008.2:p.Arg798Ter | |
| ENST00000259008.6:c.2392C>T | ENSP00000259008.2:p.Arg798Ter | |
| ENST00000577598.5:c.2392C>T | ENSP00000464654.1:p.Arg798Ter | |
| NM_032043.2:c.2392C>T , LRG_300t1:c.2392C>T | NP_114432.2:p.Arg798Ter | |
| XM_011525332.1:c.2452C>T | XP_011523634.1:p.Arg818Ter | |
| XM_011525333.1:c.2452C>T | XP_011523635.1:p.Arg818Ter | |
| XM_011525334.1:c.2452C>T | XP_011523636.1:p.Arg818Ter | |
| XM_011525335.1:c.2392C>T | XP_011523637.1:p.Arg798Ter | |
| XM_011525336.1:c.2332C>T | XP_011523638.1:p.Arg778Ter | |
| XM_011525337.1:c.2251C>T | XP_011523639.1:p.Arg751Ter | |
| XM_011525338.1:c.1969C>T | XP_011523640.1:p.Arg657Ter | |
| XM_011525339.1:c.*33C>T | XP_011523641.1:n.*33C>T | |
| XM_011525340.1:c.2452C>T | XP_011523642.1:p.Arg818Ter | |
| XM_011525332.3:c.2452C>T | XP_011523634.1:p.Arg818Ter | |
| XM_011525333.3:c.2452C>T | XP_011523635.1:p.Arg818Ter | |
| XM_011525334.2:c.2452C>T | XP_011523636.1:p.Arg818Ter | |
| XM_011525335.3:c.2392C>T | XP_011523637.1:p.Arg798Ter | |
| XM_011525336.2:c.2332C>T | XP_011523638.1:p.Arg778Ter | |
| XM_011525337.2:c.2251C>T | XP_011523639.1:p.Arg751Ter | |
| XM_011525338.2:c.1969C>T | XP_011523640.1:p.Arg657Ter | |
| XM_011525339.3:c.*33C>T | XP_011523641.1:n.*33C>T | |
| XM_011525340.3:c.2452C>T | XP_011523642.1:p.Arg818Ter | |
| XM_017025200.1:c.1909C>T | XP_016880689.1:p.Arg637Ter | |
| XM_017025201.1:c.1909C>T | XP_016880690.1:p.Arg637Ter | |
| XM_017025202.1:c.538C>T | XP_016880691.1:p.Arg180Ter | |
| XM_017025203.1:c.538C>T | XP_016880692.1:p.Arg180Ter | |
| NM_032043.3:c.2392C>T MANE Select | NP_114432.2:p.Arg798Ter |